Newsletter 2016 #2

Linda Clark, Rachel Callendar and Letitia O'Dwyer

Rare Disease Day 2016

Rare Disease Day 2016 was a wonderful success. It was lovely to see the activity that went on around the country raising awareness for our rare gems.

A special thank you to Vayla Petersen our poster girl for this year, I hope the publicity received helped to raise the awareness for Cri Du Chat and for all of our rare gems out there.

NZORD hosted a Cocktail Evening on Monday 29 February 2016 at the Wellington Club in central Wellington. It was a lovely evening, Rachel Callander was the guest speaker whose speech touched everyone.

Following on from the Cocktail evening, I travelled to Auckland, Christchurch and Dunedin, it was a pleasure to meet so many people.

If you have any photos from events held this year, it would be great to add these to the website, please email these to lyndal.bremer@nzord.org.nz.

Kind regards

Letitia

Rachel Callander - Super Power Baby Project

Rachel Callander was the guest speaker at NZORD's recent Cocktail evening to celebrate Rare Disease Day. Rachel (centre in photo above) is incredibly inspiring, here is an introduction to her for those of you who haven't heard about her as yet.

Evie Amore Callander 

It began with Evie Amore Callander. A little girl born with a rare chromosomal condition that meant her parents Rachel and Sam Callander needed to take each day as it came. Over time Evie's parents noticed that Evie responded to particular environments in a way that made them think she was experiencing them differently to other people. They started staying she had 'super powers' as a light-hearted way to describe these idiosyncrasies. They soon realised however that Evie's entire character, the things she was teaching them and those around her were very profound. Her strength and bravery in extremely tough medical situations, the way she evoked a depth of love in people that they hadn't experienced before. Her fragility and her pure joy disarmed people and drew them in. These things made her unique, distinctly Evie, and Rachel and Sam referred to them as "Super Powers", by now they were no longer light-hearted words, but incredibly real.

After loving and losing her daughter, award winning NZ Wedding and Portrait photographer Rachel turned her talent to capturing the beauty and abilities of other children with 'Super Powers'. Rachel has travelled extensively throughout NZ meeting ordinary families made extraordinary through the journeys they set out on alongside their super power children.

As a result of her travels, Rachel's insights and images offer a fresh understanding and language regarding disability. The stunning photographs of the children alongside the conversations with their parents are presented in the Super Power Baby Project, a photographic art book launched in August 2014. Since then 1,600 copies have been sold in 11 countries. Thanks to supporters of the book, copies have been donated to neo-natal units, paediatrics' clinics and schools around New Zealand where it is making real changes in the way people think about and work with people with super powers.

www.superpowerbabyproject.org

Health strategy diagram 

MoH – Updated Health Strategy

NZORD as a key stakeholder in the NZ health sector looks forward to the final updated Health Strategy which is expected to be released in the first half of 2016.

We encouraged the Strategy to specifically recognise the challenges and opportunities for patients with rare disorders, and recognised that while much of our health system is well organised and of a high standard, the provision for the needs of rare disorders is an area where significant improvements can be achieved.

As we know patients with rare disorders span all ages, but most conditions do appear in childhood and result in high mortality and morbidity. We also know that patients with rare disorders are often high users and very often expensive users of health, disability support and social services which is supported by previous research by NZORD.

NZORD also acknowledges that New Zealand has a generally good range of healthcare, disability support services, and other social services in New Zealand, with generally good access to them across most regions and health conditions. But there are gaps. Those with rare disorders (including disease, syndromes, conditions, etc) are among the most vulnerable. Some feel neglected by the system in terms of prevention, diagnosis, clinical care and disability support for their disorders, and it can often be difficult for patients and families to find knowledge. In addition to being high users of health services, many are also very high users of community support, disability support and social welfare benefits (whether access via Ministry disability systems, DHB programmes, or income support via Work and Income) but there is often insufficient coordination between these services.

We believe the specific inclusion of rare disorders within the updated Health Strategy could achieve significant and achievable opportunities for New Zealand to reduce health costs, flow-on social service costs and improve the lives of those affected by a rare disorder.

Health Hackathon – Solving Self-Care

Organised by HiNZ and The University of Auckland the objective of this years Health Hackathon was to explore and develop technology solutions in response to the problem of self-care for long term health issues.

Teams were formed on the basis of ideas pitched on Friday 13 February, with experts, mentors and academics assisting the development of the idea to a more fully developed proposal which was judged on the 15th of February.

NZORD's support group liaison, Daniel Webby, pitched an idea which sought to assist people living with rare conditions to find support and significantly improve their journey pre and post diagnosis. The weekend saw the ideas behind the proposal develop significantly (very much a WIP) and by many accounts brought a patient-centric approach to problem definition to those participating in the hackathon.

To have a look at some of the ideas developed over the course of the weekend, please take a look here; https://kdayinformatix.wordpress.com/2016/03/21/the-peoples-vote-health-hackathon/

ALD Screening

The New Zealand Organisation for Rare Disorders has been working closely with the Leukodystrophy Resource and Research Organisation Inc based in Australia to support the inclusion of ALD (Adrenoleukodystrophy) screening onto the NZ Newborn Metabolic Screening Programme.
Adrenoleukodystrophy occurs in about 1 in 20,000 males.*

To learn more about ALD and how screening can benefit families who are affected, please read this recent article published in the Taranaki Daily Times

*Moser HW, Mahmood A, Raymond GV. X-linked adrenoleukodystrophy. Nat Clin Pract Neurol. 2007;3(3):140-151).

 

Entertainment Books

Discover thousands of valuable up to 50% off and 2-for-1 offers for many of the best restaurants, cafés, arts, attractions, hotels, travel, shopping and much more.

NZORD are selling Entertainment books again this year. Both the book and the online membership can be purchased by clicking on the link below. 20% of every membership sold will go to NZORD to helps us to support and improve the level of organisation and information among patients and families affected by rare disorders.

Order your new Entertainment Book or Entertainment Digital Membership before 6 April 2016 and you will receive over $170 worth of additional offers that you can use right away!
To place an order, please use this link:
http://www.entertainmentbook.co.nz/orderbooks/921v787

To learn more about what Entertainment Book membership entitles you to, please visit the below;
http://www.entertainmentbook.co.nz/about/Tell-Me-More.aspx

University of Auckland Study

Researchers at the University of Auckland are leading a study to uncover DNA changes responsible for rare neurodevelopmental disorders that have not been explained through standard tests. They plan to apply revolutionary new DNA sequencing technologies to obtain a genetic diagnosis for participating families and demonstrate the benefits of routine clinical use of this technology in New Zealand.

They are still looking for families who have a child (or children) with an undiagnosed neurodevelopmental condition with an accompanying intellectual disability. Participants need to provide a DNA sample (saliva or blood). This study is approved by the Northern B Health and Disability Ethics Committee, reference 12/NTB/59 and is part of a larger project investigating the genetic underpinnings of neurodevelopmental disorders in New Zealand. More information about the wider research programme can be found at: www.mindsforminds.org.nz, or by way of the contact below.

If you are interested in participating in this research project please contact the research team directly – Whitney Whitford at: arnnz@auckland.ac.nz.